Incidental Mutation 'R0843:Arrdc3'
ID |
77263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arrdc3
|
Ensembl Gene |
ENSMUSG00000074794 |
Gene Name |
arrestin domain containing 3 |
Synonyms |
|
MMRRC Submission |
039022-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.509)
|
Stock # |
R0843 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
81031508-81044161 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 81038922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099356]
[ENSMUST00000159690]
[ENSMUST00000161441]
|
AlphaFold |
Q7TPQ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099356
|
SMART Domains |
Protein: ENSMUSP00000096957 Gene: ENSMUSG00000074794
Domain | Start | End | E-Value | Type |
Pfam:Arrestin_N
|
9 |
165 |
3.4e-35 |
PFAM |
Arrestin_C
|
187 |
314 |
1.25e-29 |
SMART |
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
low complexity region
|
335 |
347 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159090
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159690
|
SMART Domains |
Protein: ENSMUSP00000124418 Gene: ENSMUSG00000074794
Domain | Start | End | E-Value | Type |
Pfam:Arrestin_N
|
9 |
165 |
3.5e-38 |
PFAM |
Arrestin_C
|
187 |
314 |
1.25e-29 |
SMART |
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159856
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161441
|
SMART Domains |
Protein: ENSMUSP00000125455 Gene: ENSMUSG00000074794
Domain | Start | End | E-Value | Type |
Pfam:Arrestin_C
|
4 |
94 |
2e-10 |
PFAM |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162904
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.6%
|
Validation Efficiency |
98% (40/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016] PHENOTYPE: Mice homozygous for a gene trap allele exhibit resistance to age-related obesity, insulin resistance, and hepatic steatosis. Mice homozygous for a different gene trap allele exhibit resistance to obesity, embryonic lethality when dams are fed a standard chow and dandruff due to very thin skin. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrb2 |
T |
C |
18: 62,312,142 (GRCm39) |
R228G |
probably benign |
Het |
Cacna1d |
T |
C |
14: 29,846,828 (GRCm39) |
Y526C |
probably damaging |
Het |
Cenpn |
T |
C |
8: 117,660,045 (GRCm39) |
V125A |
probably benign |
Het |
Cyfip1 |
A |
T |
7: 55,572,568 (GRCm39) |
H963L |
probably benign |
Het |
Dnah8 |
T |
C |
17: 31,032,069 (GRCm39) |
Y4130H |
probably damaging |
Het |
Dnmt3a |
T |
C |
12: 3,922,886 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,631,647 (GRCm39) |
T4448M |
possibly damaging |
Het |
Efr3a |
T |
A |
15: 65,709,272 (GRCm39) |
|
probably benign |
Het |
Fgf11 |
T |
G |
11: 69,689,602 (GRCm39) |
|
probably benign |
Het |
Gabrr1 |
T |
A |
4: 33,161,717 (GRCm39) |
I347N |
possibly damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Hspa1b |
T |
A |
17: 35,176,524 (GRCm39) |
N487I |
possibly damaging |
Het |
Ifi207 |
A |
T |
1: 173,555,143 (GRCm39) |
N853K |
probably damaging |
Het |
Iqgap3 |
A |
G |
3: 88,015,738 (GRCm39) |
D40G |
possibly damaging |
Het |
Iyd |
T |
C |
10: 3,495,663 (GRCm39) |
V107A |
possibly damaging |
Het |
Kctd3 |
A |
T |
1: 188,729,170 (GRCm39) |
L129* |
probably null |
Het |
Myo7b |
A |
G |
18: 32,107,137 (GRCm39) |
F1286S |
possibly damaging |
Het |
Or4a47 |
C |
T |
2: 89,665,960 (GRCm39) |
V110I |
probably benign |
Het |
Or52s1b |
T |
A |
7: 102,822,326 (GRCm39) |
T173S |
possibly damaging |
Het |
Or8c15 |
T |
A |
9: 38,120,579 (GRCm39) |
F77I |
possibly damaging |
Het |
Pcsk5 |
T |
A |
19: 17,632,182 (GRCm39) |
Y328F |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,942,769 (GRCm39) |
L1810P |
probably benign |
Het |
Polr2h |
T |
A |
16: 20,537,649 (GRCm39) |
V50E |
probably damaging |
Het |
Ppm1g |
T |
C |
5: 31,364,895 (GRCm39) |
|
probably benign |
Het |
Ptpru |
T |
A |
4: 131,525,259 (GRCm39) |
R741S |
probably benign |
Het |
Pyroxd2 |
T |
C |
19: 42,735,986 (GRCm39) |
E64G |
probably damaging |
Het |
Rad54b |
T |
C |
4: 11,609,471 (GRCm39) |
|
probably null |
Het |
Rangap1 |
A |
T |
15: 81,594,703 (GRCm39) |
D375E |
probably benign |
Het |
Rhbdf1 |
G |
A |
11: 32,165,053 (GRCm39) |
R107C |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,329,706 (GRCm39) |
E140G |
probably damaging |
Het |
Slitrk6 |
G |
T |
14: 110,987,530 (GRCm39) |
H726N |
probably benign |
Het |
Spry2 |
A |
G |
14: 106,130,524 (GRCm39) |
C221R |
probably damaging |
Het |
Stx2 |
C |
T |
5: 129,076,612 (GRCm39) |
V24M |
probably damaging |
Het |
Tent5b |
T |
C |
4: 133,213,842 (GRCm39) |
S238P |
probably damaging |
Het |
Tll2 |
T |
A |
19: 41,116,902 (GRCm39) |
|
probably null |
Het |
Ttyh3 |
C |
A |
5: 140,612,201 (GRCm39) |
|
probably null |
Het |
Vmn2r116 |
T |
C |
17: 23,619,934 (GRCm39) |
V556A |
probably benign |
Het |
Xpo5 |
T |
C |
17: 46,533,576 (GRCm39) |
|
probably benign |
Het |
Zc3h3 |
A |
G |
15: 75,709,328 (GRCm39) |
S514P |
probably benign |
Het |
Zfp277 |
A |
C |
12: 40,370,599 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Arrdc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00272:Arrdc3
|
APN |
13 |
81,038,691 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00933:Arrdc3
|
APN |
13 |
81,039,174 (GRCm39) |
splice site |
probably benign |
|
IGL02006:Arrdc3
|
APN |
13 |
81,031,893 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02009:Arrdc3
|
APN |
13 |
81,041,499 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02272:Arrdc3
|
APN |
13 |
81,039,769 (GRCm39) |
splice site |
probably benign |
|
IGL02634:Arrdc3
|
APN |
13 |
81,038,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03337:Arrdc3
|
APN |
13 |
81,038,766 (GRCm39) |
missense |
probably benign |
0.01 |
R0008:Arrdc3
|
UTSW |
13 |
81,039,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Arrdc3
|
UTSW |
13 |
81,039,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Arrdc3
|
UTSW |
13 |
81,032,011 (GRCm39) |
nonsense |
probably null |
|
R0838:Arrdc3
|
UTSW |
13 |
81,037,366 (GRCm39) |
splice site |
probably benign |
|
R1211:Arrdc3
|
UTSW |
13 |
81,038,817 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1404:Arrdc3
|
UTSW |
13 |
81,031,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R1404:Arrdc3
|
UTSW |
13 |
81,031,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Arrdc3
|
UTSW |
13 |
81,031,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R4446:Arrdc3
|
UTSW |
13 |
81,037,182 (GRCm39) |
intron |
probably benign |
|
R4540:Arrdc3
|
UTSW |
13 |
81,038,790 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4718:Arrdc3
|
UTSW |
13 |
81,031,986 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5138:Arrdc3
|
UTSW |
13 |
81,039,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R5814:Arrdc3
|
UTSW |
13 |
81,038,698 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6514:Arrdc3
|
UTSW |
13 |
81,037,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R6899:Arrdc3
|
UTSW |
13 |
81,037,330 (GRCm39) |
missense |
probably damaging |
0.99 |
R6985:Arrdc3
|
UTSW |
13 |
81,031,776 (GRCm39) |
missense |
probably damaging |
0.99 |
R7076:Arrdc3
|
UTSW |
13 |
81,038,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R7670:Arrdc3
|
UTSW |
13 |
81,037,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R8342:Arrdc3
|
UTSW |
13 |
81,031,790 (GRCm39) |
missense |
probably benign |
0.09 |
R8981:Arrdc3
|
UTSW |
13 |
81,038,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R9163:Arrdc3
|
UTSW |
13 |
81,041,506 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCGAGATTGAGAACTGCTCTTCC -3'
(R):5'- TTCGGTCAGCACTCCACGTACAAC -3'
Sequencing Primer
(F):5'- GAGAACTGCTCTTCCCGAATG -3'
(R):5'- ACACCCTAATTCTCATATTAGCTGTG -3'
|
Posted On |
2013-10-16 |